Incidental Mutation 'R5445:Pdlim5'
| ID |
427385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim5
|
| Ensembl Gene |
ENSMUSG00000028273 |
| Gene Name |
PDZ and LIM domain 5 |
| Synonyms |
Enh, 1110001A05Rik, Enh3, Enh2 |
| MMRRC Submission |
043010-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5445 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
141945351-142101457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142058495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 83
(R83K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029941]
[ENSMUST00000058626]
[ENSMUST00000090134]
[ENSMUST00000168967]
[ENSMUST00000170361]
[ENSMUST00000195975]
[ENSMUST00000196220]
[ENSMUST00000196908]
[ENSMUST00000198381]
[ENSMUST00000200043]
|
| AlphaFold |
Q8CI51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029941
AA Change: R83K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
Pfam:DUF4749
|
212 |
305 |
1.3e-9 |
PFAM |
|
low complexity region
|
310 |
339 |
N/A |
INTRINSIC |
|
LIM
|
414 |
465 |
3.17e-17 |
SMART |
|
LIM
|
473 |
524 |
4.62e-19 |
SMART |
|
LIM
|
532 |
585 |
1.79e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000058626
AA Change: R83K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090134
AA Change: R83K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
111 |
118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168967
AA Change: R83K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170361
AA Change: R83K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
Pfam:DUF4749
|
101 |
207 |
2.7e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195975
AA Change: R83K
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
237 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
362 |
N/A |
INTRINSIC |
|
LIM
|
437 |
488 |
3.17e-17 |
SMART |
|
LIM
|
496 |
547 |
4.62e-19 |
SMART |
|
LIM
|
555 |
608 |
1.79e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196220
AA Change: R83K
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
226 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
322 |
N/A |
INTRINSIC |
|
LIM
|
397 |
448 |
3.17e-17 |
SMART |
|
LIM
|
456 |
507 |
4.62e-19 |
SMART |
|
LIM
|
515 |
568 |
1.79e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196908
AA Change: R83K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
144 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198381
AA Change: R83K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
201 |
230 |
N/A |
INTRINSIC |
|
LIM
|
305 |
356 |
3.17e-17 |
SMART |
|
LIM
|
364 |
415 |
4.62e-19 |
SMART |
|
LIM
|
423 |
476 |
1.79e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200043
AA Change: R83K
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: R83K
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
5.54e-17 |
SMART |
|
low complexity region
|
228 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
274 |
N/A |
INTRINSIC |
|
LIM
|
349 |
400 |
3.17e-17 |
SMART |
|
LIM
|
408 |
459 |
4.62e-19 |
SMART |
|
LIM
|
467 |
520 |
1.79e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cardiac muscle contractility, wider Z-lines, and dilated cardiomyopathy. Mice heterozygous for a gene trap allele exhibit impaired response to methamphetamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,978,557 (GRCm39) |
D300E |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,725,960 (GRCm39) |
V244A |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,159,678 (GRCm39) |
S232P |
probably benign |
Het |
| Atf7ip |
G |
A |
6: 136,564,255 (GRCm39) |
V833M |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,421,770 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
T |
C |
2: 118,590,067 (GRCm39) |
D259G |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,299,974 (GRCm39) |
E2911D |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,770,469 (GRCm39) |
D1807G |
probably benign |
Het |
| Cfap251 |
C |
T |
5: 123,425,240 (GRCm39) |
T294M |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,557,660 (GRCm39) |
T753A |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,733,014 (GRCm39) |
D971G |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,865,727 (GRCm39) |
T772A |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,192,958 (GRCm39) |
N687Y |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,709,761 (GRCm39) |
R1812* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,168,360 (GRCm39) |
I700V |
possibly damaging |
Het |
| Flt3 |
G |
A |
5: 147,291,905 (GRCm39) |
Q540* |
probably null |
Het |
| Fmo4 |
T |
A |
1: 162,632,842 (GRCm39) |
I170F |
probably benign |
Het |
| Fra10ac1 |
T |
A |
19: 38,207,910 (GRCm39) |
D72V |
possibly damaging |
Het |
| Garin2 |
G |
A |
12: 78,761,890 (GRCm39) |
E185K |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm2381 |
T |
G |
7: 42,469,425 (GRCm39) |
H233P |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,995 (GRCm39) |
Q75L |
probably damaging |
Het |
| Gm8369 |
T |
C |
19: 11,482,170 (GRCm39) |
V27A |
possibly damaging |
Het |
| Gpr157 |
T |
C |
4: 150,186,825 (GRCm39) |
S318P |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,404,337 (GRCm39) |
V405M |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,400,738 (GRCm39) |
R41G |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,467 (GRCm39) |
L791Q |
probably damaging |
Het |
| Hjurp |
T |
G |
1: 88,194,038 (GRCm39) |
K290T |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,363 (GRCm39) |
E773G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,914,685 (GRCm39) |
Y697H |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,846,234 (GRCm39) |
T313A |
probably benign |
Het |
| Lrba |
G |
T |
3: 86,275,902 (GRCm39) |
V1757L |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,306 (GRCm39) |
T278A |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,428 (GRCm39) |
I679V |
probably null |
Het |
| Mapk4 |
G |
T |
18: 74,064,073 (GRCm39) |
T383K |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,117,471 (GRCm39) |
V208A |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,411,603 (GRCm39) |
C3234* |
probably null |
Het |
| Nlrp1b |
G |
T |
11: 71,108,701 (GRCm39) |
Q267K |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,881,922 (GRCm39) |
K37E |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,962,681 (GRCm39) |
M755T |
probably damaging |
Het |
| Or10u4 |
T |
A |
10: 129,802,158 (GRCm39) |
H137L |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,028 (GRCm39) |
F120S |
probably damaging |
Het |
| Or5p58 |
A |
G |
7: 107,693,949 (GRCm39) |
V276A |
possibly damaging |
Het |
| Plekha5 |
A |
T |
6: 140,498,459 (GRCm39) |
R173* |
probably null |
Het |
| Pramel25 |
T |
A |
4: 143,521,707 (GRCm39) |
V441E |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 117,080,853 (GRCm39) |
D6V |
possibly damaging |
Het |
| Rhoq |
A |
T |
17: 87,271,755 (GRCm39) |
Y57F |
probably benign |
Het |
| Rrm1 |
A |
T |
7: 102,100,230 (GRCm39) |
T204S |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,239,323 (GRCm39) |
I447N |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,438,484 (GRCm39) |
Q281* |
probably null |
Het |
| Tert |
T |
A |
13: 73,792,403 (GRCm39) |
M890K |
probably benign |
Het |
| Tln1 |
C |
A |
4: 43,543,905 (GRCm39) |
R1198L |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,748,178 (GRCm39) |
M253V |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,375,119 (GRCm39) |
V782F |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,260 (GRCm39) |
S464T |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,928 (GRCm39) |
Y397F |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,466 (GRCm39) |
T144A |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,954,386 (GRCm39) |
H850L |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,682,842 (GRCm39) |
Q3427L |
unknown |
Het |
| Zfp236 |
G |
T |
18: 82,700,281 (GRCm39) |
Q63K |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,775,054 (GRCm39) |
C365* |
probably null |
Het |
| Zfp786 |
T |
C |
6: 47,796,619 (GRCm39) |
E773G |
probably damaging |
Het |
|
| Other mutations in Pdlim5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02673:Pdlim5
|
APN |
3 |
142,058,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Pdlim5
|
UTSW |
3 |
142,012,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1937:Pdlim5
|
UTSW |
3 |
141,950,742 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3000:Pdlim5
|
UTSW |
3 |
142,017,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Pdlim5
|
UTSW |
3 |
141,964,978 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4959:Pdlim5
|
UTSW |
3 |
142,017,740 (GRCm39) |
intron |
probably benign |
|
|
R4973:Pdlim5
|
UTSW |
3 |
142,017,740 (GRCm39) |
intron |
probably benign |
|
|
R5135:Pdlim5
|
UTSW |
3 |
142,010,126 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5393:Pdlim5
|
UTSW |
3 |
141,964,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Pdlim5
|
UTSW |
3 |
142,010,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Pdlim5
|
UTSW |
3 |
141,983,674 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6269:Pdlim5
|
UTSW |
3 |
142,018,086 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6395:Pdlim5
|
UTSW |
3 |
142,020,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Pdlim5
|
UTSW |
3 |
141,965,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Pdlim5
|
UTSW |
3 |
142,010,076 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7135:Pdlim5
|
UTSW |
3 |
142,017,683 (GRCm39) |
splice site |
probably null |
|
|
R7283:Pdlim5
|
UTSW |
3 |
142,017,741 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7334:Pdlim5
|
UTSW |
3 |
141,950,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Pdlim5
|
UTSW |
3 |
141,964,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Pdlim5
|
UTSW |
3 |
141,983,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7696:Pdlim5
|
UTSW |
3 |
141,983,623 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7779:Pdlim5
|
UTSW |
3 |
141,948,447 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7904:Pdlim5
|
UTSW |
3 |
142,018,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Pdlim5
|
UTSW |
3 |
142,017,948 (GRCm39) |
missense |
probably benign |
|
|
R8913:Pdlim5
|
UTSW |
3 |
141,950,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Pdlim5
|
UTSW |
3 |
142,009,163 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9087:Pdlim5
|
UTSW |
3 |
142,058,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9103:Pdlim5
|
UTSW |
3 |
142,010,174 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9320:Pdlim5
|
UTSW |
3 |
141,953,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Pdlim5
|
UTSW |
3 |
142,010,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Pdlim5
|
UTSW |
3 |
142,018,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9711:Pdlim5
|
UTSW |
3 |
141,948,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTCTAGTGAGAAACTTTTCAG -3'
(R):5'- ACAGTGAGGTTTCTAATGAGATCTG -3'
Sequencing Primer
(F):5'- CGACCAATGTTTATGAAGACATGG -3'
(R):5'- AGATCTGTTTATTGCAGCTGAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation